血清三联筛查联合无创基因检测对唐氏综合征的诊断价值

Value of serum triple screening combined with noninvasive prenatal testing in the diagnosis of Down's syndrome

目的了解血清三联筛查联合无创基因检测(noninvasive prenatal testing,NIPT)对唐氏综合征(Down syndrome,DS)的诊断价值。方法选取2016年1月-2017年7月行DS产前筛查的孕妇272例,均给予血清三联筛查,对于风险值≥1/1 000及年龄≥35岁者建议行NIPT,联合筛查结果以NIPT检测为准。DS诊断以产后追访及羊膜腔穿刺检测结果为"金标准",统计血清三联筛查联合NIPT诊断DS筛查的阳性率。结果 69例高龄孕妇均建议行NIPT,实际检测33例,接受率为47.8%。经产后追访及羊膜腔穿刺检测结果显示,11例孕妇确诊为DS。血清三联筛查结果显示8例为高风险,3例为低风险;NIPT结果显示9例为高风险,2例未行NIPT;联合筛查结果显示10例为高风险,1例为低风险。联合筛查方案共检出高风险14例,筛查阳性率为90.9%(10/11)。结论血清三联筛查联合NIPT对于DS产前筛查具有较高的诊断价值,值得临床推广应用。

Objective To explore the value of serum triple screening combined with noninvasive prenatal testing（NIPT） in the diagnosis of Down’s syndrome. 272 pregnant women who received DS prenatal screening from January 2016 Methodsto July 2017 were selected for the study. All the pregnant women underwent serum triple screening. For those with the risk value of ≥1/1 000 and the age of ≥35 years, NIPT was recommended. In terms of the results of combined screening test, the NIPT test prevailed. The positive rate and false positive rate of serum triple screening combined with NIPT in the diagnosis of DS were statistically analyzed. Results 69 cases of pregnant woman at an advanced age were all recommended for NIPT, and 33 cases（47.8%） received NIPT. Postpartum follow-up and detection results of amniocentesis showed that 11 cases were diagnosed with DS. The serum triple screening results showed 8 cases with high risks while 3 cases with low risks; NIPT results showed that 9 cases with high risks while 2 cases did not receive NIPT; the combined screening results showed that 10 cases with high risks while 1 case with low risks. With the regimen of combined screening, a total of 14 cases with high risks have been detected, and the positive rate of the screening was 90.9%（10/11）. Conclusion Serum triple screening combined with NIPT has high value for the prenatal screening of DS, and is worth clinical promotion.